U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Search results

Items: 5

1.

Acquired polycythemia vera

Polycythemia vera (PV), the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005). [from OMIM]

MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
2.

Schimke immuno-osseous dysplasia

Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated. [from GeneReviews]

MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
3.

Cerebral amyloid angiopathy, APP-related

Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive dementia. APP-related CAA is the most common form of CAA (Revesz et al., 2003, 2009). [from OMIM]

MedGen UID:
414044
Concept ID:
C2751536
Disease or Syndrome
4.

Internal carotid artery hypoplasia

MedGen UID:
383757
Concept ID:
C1855736
Finding
5.

Cerebral ischemia

Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. [from HPO]

MedGen UID:
182975
Concept ID:
C0917798
Pathologic Function

Supplemental Content

Find related data

Search details

See more...

Recent activity

External link. Please review our privacy policy.